Find information on thousands of medical conditions and prescription drugs.

Treacher Collins syndrome

Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. It is also known as Treacher Collins-Franceschetti syndrome and mandibulofacial dysostosis. Treacher Collins syndrome is found in 1 in every 50,000 births. The typical physical features include downward slanting eyes, a small lower jaw, and malformed or absent ears. more...

Home
Diseases
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
Candidiasis
Tachycardia
Taeniasis
Talipes equinovarus
TAR syndrome
Tardive dyskinesia
Tarsal tunnel syndrome
Tay syndrome ichthyosis
Tay-Sachs disease
Telangiectasia
Telangiectasia,...
TEN
Teratoma
Teratophobia
Testotoxicosis
Tetanus
Tetraploidy
Thalassemia
Thalassemia major
Thalassemia minor
Thalassophobia
Thanatophobia
Thoracic outlet syndrome
Thrombocytopenia
Thrombocytosis
Thrombotic...
Thymoma
Thyroid cancer
Tick paralysis
Tick-borne encephalitis
Tietz syndrome
Tinnitus
Todd's paralysis
Topophobia
Torticollis
Touraine-Solente-Golé...
Tourette syndrome
Toxic shock syndrome
Toxocariasis
Toxoplasmosis
Tracheoesophageal fistula
Trachoma
Transient...
Transient Global Amnesia
Transposition of great...
Transverse myelitis
Traumatophobia
Treacher Collins syndrome
Tremor hereditary essential
Trichinellosis
Trichinosis
Trichomoniasis
Trichotillomania
Tricuspid atresia
Trigeminal neuralgia
Trigger thumb
Trimethylaminuria
Triplo X Syndrome
Triploidy
Trisomy
Tropical sprue
Tropophobia
Trypanophobia
Tuberculosis
Tuberous Sclerosis
Tularemia
Tungiasis
Turcot syndrome
Turner's syndrome
Typhoid
Typhus
Tyrosinemia
U
V
W
X
Y
Z
Medicines

Its most common name is after Dr Edward Treacher Collins (1862-1932), English surgeon and ophthalmologist, who described the essential traits of the syndrome in 1900.

The disease is caused by mutations in the TCOF1 gene (chromosome 5q32-q33.1). The protein coded by this gene is called treacle and has been hypothesised to assist in protein sorting during particular stages in embryonic development, particularly that of the structures of the head and face. The disorder is inherited in an autosomal dominant pattern.

Symptoms

The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, which result in a sunken appearance in the middle of the face, a prominent nose, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.

People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. This condition is also characterized by absent, small, or unusually formed ears (pinnae), called microtia. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of cases. People with Treacher Collins syndrome usually have normal intelligence.

Read more at Wikipedia.org


[List your site here Free!]


Burger chain to pay $34,000 after not hiring disfigured worker
From Chicago Sun-Times, 9/13/05

KANSAS CITY, Mo. -- Hardee's has agreed to pay $34,000 to settle a lawsuit alleging that one of its restaurants repeatedly refused to hire an applicant because her face was disfigured.

The U.S. Equal Employment Opportunity Commission and the St. Louis-based fast-food chain, which is owned by CKE Restaurants Inc., submitted the proposed agreement Monday to U.S. District Court in Kansas City. Besides the money, the settlement also calls for the chain to apologize in writing and further train its managers and human resources employees.

The EEOC said the suit, also filed Monday, alleged that the job seeker applied more than once for entry-level work at the Hardee's in Oak Grove, near Independence, but was never hired. The suit said others with no better qualifications were given jobs while the applicant was not. The woman has Treacher Collins Syndrome, a birth defect that caused a malformed cranial bone structure, asymmetrical eye placement and the absence of ears.

CKE, based in Carpinteria, Calif., did not return calls for comment.

AP

Copyright The Chicago Sun-Times, Inc.
Provided by ProQuest Information and Learning Company. All rights Reserved.

Return to Treacher Collins syndrome
Home Contact Resources Exchange Links ebay